A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv442923

Internal ID15154956
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150955199..150963146hg38UCSC Ensembl
Innerchr4:151876351..151884298hg19UCSC Ensembl
Innerchr4:152095801..152103748hg18UCSC Ensembl
Innerchr4:152233956..152241903hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1627016, nssv1626991, nssv1626983, nssv1626989, nssv1626993, nssv1627005, nssv1626976, nssv1627015, nssv1627012, nssv1626995, nssv1627014, nssv1626987, nssv1627003, nssv1626986, nssv1627002, nssv1627008, nssv1627013, nssv1626978, nssv1627000, nssv1626977, nssv1627007, nssv1626998, nssv1627009, nssv1626985, nssv1626997, nssv1627006, nssv1626981, nssv1626988, nssv1626984, nssv1627001, nssv1626999, nssv1627011, nssv1627010, nssv1626996, nssv1626994, nssv1626979, nssv1626980, nssv1627004, nssv1626990, nssv1626992, nssv1626982
SamplesNA19142, NA19137, NA18870, NA18863, NA19127, NA19194, NA18871, NA19222, NA19209, NA18859, NA18516, NA18855, NA19210, NA18860, NA18506, NA18862, NA19143, NA19140, NA19211, NA18508, NA19239, NA18856, NA19100, NA18515, NA19129, NA19172, NA19103, NA18522, NA18502, NA19139, NA19141, NA19145, NA19101, NA19193, NA18872, NA19128, NA19099, NA19240, NA18853, NA19204, NA18913
Known GenesLRBA
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Pubmed ID18776908
Accession Number(s)nsv442923
Sample Size270
Observed Gain0
Observed Loss41
Observed Complex0

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